Introduction: Mitchell Riley syndrome is a rare autosomal disorder, characterized by severe neonatal diabetes associated with hypoplastic or annular pancreas, duodenal or jejunal atresia, intestinal malrotation, gallbladder hypoplasia or agenesis, and cholestatic disease, less common features were reported such as severe neonatal anemia, hemochromatosis and biliary atresia.
Mitchell-Riley syndrome is caused by a mutation in regulatory factor X (RFX), mutations in RFX6 are assumed to be the cause of neonatal diabetes in this syndrome.
Here we report a novel mutation of RFX6 gene in a Palestinian infant with Mitchell Riley syndrome.
Case presentation: We report a female newborn, for a consanguineous Palestinian parents, fetal ultrasound revealed intrauterine growth restriction, mild polyhydramnios and findings suggestive of duodenal atresia (double bubble sign). She was born at 38 weeks of gestation, birthweight 1705 gm. Initial abdomen x-ray showed classic double bubble sign, and was operated at 4th day of life. Then developed hyperglycemia 330 mg/dl and clinical picture suggestive of neonatal diabetes.
During hospitalization developed clay colored foul smelling diarrhea was soon noticed, several measures were taken to improve feeding tolerance including hydrolyzed, elemental formula, monogen MCT rich formula- as well as chicken soup however non proven to be beneficial to improve baby failure to thrive and she remained dependent on total parenteral nutrition.
Molecular Data: Sequencing of the RFX6 gene of the patient revealed a novel homozygous mutation C.1278 1281delTCTT in exon 12 of RFX6 gene. Father and mother were heterozygous for the same mutation.
Conclusion: To the best of our knowledge this is the seventeenth proband with Mitchell-Riley syndrome worldwide, and the first description of this disease in a Palestinian family with molecular confirmation allowing accurate genetic counseling, early diagnosis of affected kindreds, early therapeutic interventions and avoiding complications.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology